DKC1, dyskerin pseudouridine synthase 1, 1736

N. diseases: 168; N. variants: 44
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.030 AlteredExpression phenotype BEFREE Thus, translational dysregulation of dyskerin could constitute a mechanism by which the CLL PB B cells acquire an aggressive phenotype and thus have a major role in oncogenesis. 27253413 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.030 Biomarker phenotype BEFREE However, the contributions of dyskerin to sporadic tumorigenesis are unknown. 21480387 2011
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.030 AlteredExpression phenotype BEFREE Here, we report that impairment in p27 IRES-mediated translation due to decreased levels of DKC1 activity markedly increases spontaneous pituitary tumorigenesis in p27 heterozygous mice. 20587522 2010